Polydactyly of The Fetal Foot: A Case and Review of The Literature

Polydactyly of the fetal foot: A case report and
review of the literature

Israel Benjamin , Rochelle Johns , Ogochukwu Oseji , Torrie Anderson , Felipe Mercardo , Victor Arruana ,
Jana Yancey , Andrej Bogojevic , Ronald Bainbridge , Lorraine Toner, Kecia Gaither
visit. Her past medical history was complicated by a prior

Keywords: Polydactly Pregnancy Maternal fetal medicine Genetic cesarean delivery. An anatomical survey at 19 weeks noted
Orthopedic
an extra postaxial digit on the right foot (Figures 1A-B),
with no other anomalies appreciated. She and the father of
Author affiliations: Israel Benjamin NYC Health+Hospitals/Lincoln, 234 East 149th Street,
the baby underwent genetic consultation, and no pertinent
Bronx, NY 10451, United States; Rochelle Johns NYC Health+Hospitals/Lincoln, 234 East family history for polydactyly was found for either par-
149th Street, Bronx, NY 10451, United States; Ogochukwu Oseji NYC
Health+Hospitals/Lincoln, 234 East 149th Street, Bronx, NY 10451, United States;
ent. Genetic amniocentesis was offered and declined; non-
Torrie Anderson NYC Health+Hospitals/Lincoln, 234 East 149th Street, Bronx, NY 10451, invasive prenatal testing (NIPT) was accepted and noted to
United States; Felipe Mercardo NYC Health+Hospitals/Lincoln, 234 East 149th Street,
Bronx, NY 10451, United States; Victor Arruana NYC Health+Hospitals/Lincoln, 234 East be low risk for measured aneuploidy. A fetal echocardio-
149th Street, Bronx, NY 10451, United States; Jana Yancey NYC Health+Hospitals/Lincoln,
234 East 149th Street, Bronx, NY 10451, United States; Andrej Bogojevic NYC
gram performed at 24 weeks noted mild mitral and tricus-
Health+Hospitals/Lincoln, 234 East 149th Street, Bronx, NY 10451, United States; pid regurgitation. Interval growth scans denoted a small
Ronald Bainbridge NYC Health+Hospitals/Lincoln, 234 East 149th Street, Bronx, NY 10451,
United States; Lorraine Toner NYC Health+Hospitals/Lincoln, 234 East 149th Street, Bronx, for gestational age fetus with reassuring antenatal testing
NY 10451, United States; Kecia Gaither NYC Health+Hospitals/Lincoln, 234 East 149th consisting of biophysical profile assessment with umbili-
Street, Bronx, NY 10451, United States
Corresponding author.email: kecia.gaither@nychhc.org
cal doppler analysis. Patient was delivered via repeat ce-
© 2022 National Medical Association. Published by Elsevier Inc. All rights reserved.
sarean @ 39 weeks of a viable female infant, weight 2710
https://doi.org/10.1016/j.jnma.2022.03.001 grams, with APGAR score of 9 /9, at 1 minute and 5 min-
utes respectively. Post delivery inspection of the right foot
confirmed the prenatal sonographic findings of Post Ax-
INTRODUCTION ial Type A polydactyly of the right foot (Figures 2A-B).
olydactyly is defined as a congenital anomaly char- Prior to discharge an appointment for consultation with a
P acterized by supernumerary digits located on either

the hand or foot. It can manifest as an isolated find-
ing, or in conjunction with other genetic disorders. Fetuses
Pediatric Orthopedic/Plastic Surgeon was made.
prenatally diagnosed should have a detailed anatomic sur- DISCUSSION

vey evaluating for other associated anomalies, bi-parental Polydactyly is a common congenital anomaly of the foot
genetic consultation with in depth family histories, op- and can be classified according to anatomic variations
tion for genetic amniocentesis, fetal echocardiogram and in bony anatomy, external aspects of the involved dig-
serial ultrasounds for growth. Accurate understanding of its and associated anomalies. Non-syndromic polydactyly
the involved anatomy in conjunction with other anoma- typically has been classified into 3 types; preaxial poly-
lies and/or aneuploidies leads to better perinatal outcomes. dactyly (radial), central polydactyly (axial) and postax-
Post delivery radiographs obtained after ossification of the ial polydactyly (ulnar).1 Postaxial polydactyly is the com-
involved bones allows for the option of definitive surgical monest type of presentation in 80% of the cases, followed
treatment of the duplicated parts and associated malfor- by preaxial and then central.
mations. We present a case of prenatally diagnosed Post The genetics of the disorder is exceedingly complex
Axial Type A polydactyly of the fetal foot,with review of and not restricted to Mendelian inheritance patterns. Poly-
the literature dactyly is inherited predominantly as an autosomal domi-
nant entity with variable penetrance.1 Limb formation en-
sues at 4-8 weeks of gestation, with upper limb devel-
CASE REPORT opment preceding lower limb development with comple-
The mother of the patient is a 26 year old Gravida 3, Para tion noted by 12 weeks gestation. Specific signals within
2 who presented at 16 weeks gestation for her first prenatal the growing limb determine digit number and identity.2
406 VOL 114, NO 4, AUGUST 2022 JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION
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POLYDACTYLY OF THE FETAL FOOT: A CASE REPORT AND REVIEW OF THE LITERATURE
Fig. 1. A. Sonographic view of right foot with the noted post axial polydactyly. The arrow denotes the extra digits as well as the malformation in the shape
of the foot, Figure 1B. Sonographic view of right foot with the noted post axial polydactyly. The arrow denotes the extra digits as well as the malformation
in the shape of the foot.
There are at least ten loci and six genes identified causing Polydactyly represents approximately 45-50% of con-
non-syndromic polydactyly in humans, including 2NF141, genital foot anomalies with a reported incidence of
GL13, M1POLI, IQXE, PITX1 and GL1.3 , 4 It is a balance 1.7/1000 live births. While no sex predilection is noted,
of these genes which control normal limb development. a marked variation in the incidence related to ethnicity is
Preaxial and postaxial polydactyly have been reported to recognized. Rates are highest in patients of African de-
have separate patterns of genetic inheritance; in postaxial scent 3.6-13.9/1000 live births, whereas the prevalence
polydactyly hands are impacted more than feet, and left among Caucasians is approximately 0.3-1.3/1000 live
limbs more often than right.5 births.6 , 7 Additionally in highly integrated urban popula-
JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION VOL 114, NO 4, AUGUST 2022 407
Fig. 2. A. Post-delivery dorsal view of right foot demonstrating post axial Fig. 3. Bony anatomy of the foot.
polydactyly type A, Figure 2B. Plantar view of infant’s right foot
denoting extra digit and foot deformity.
common associated anomaly. Other accompanying condi-

tions include vertebral anomalies, cleft deformities of the
lip/palate, cardiac defects and tibial deficiencies. Common
genetic syndromes aligned with foot polydactyly include
Trisomy 13, Trisomy 21, Ellis-Van Creveld Syndrome,
Tibial Hemimelia and Greig Cephalopolysyndactyly Syn-
drome.9
An assortment of classification systems exists for poly-
dactyly of the foot. The Temtamy and McKusick’s classifi-
cation is predicated solely on the location of the extra digit
and defines the disorder as being either isolated or part of
a syndrome.10 Specifically, medial ray (preaxial), central
ray, and lateral ray, (postaxial) with Postaxial Type A re-
ferring to a fully developed digit and Type B referring to
a rudimentary digit (Figures 3-5). The Venn-Watson clas-
sification further subdivides post axial duplication accord-
ing to the morphologic appearance of the accessory ray.
Four metatarsal forms were noted; complete duplication,
Y-shaped metatarsal, wide metatarsal head and soft tissue
duplication.11 Watanabe et al., classified foot polydactyly
into 1 tarsal type, metatarsal type (with 3 subtypes), prox-
tions, differences in birth prevalence rates of polydactyly imal phalangeal type (with 5 subtypes) and distal pha-
largely reflects ethnic differences.8 langeal type (with six subtypes).12 A recently introduced
Foot polydactyly is most often an isolated condition, classification system classifies polydactyly into 3 main cat-
but it may be associated with other anomalies or be egories; presence of axis deviation, presence of syndactyly,
part of a syndrome. Polydactyly of the hand is the most and extent of metatarsal involvement.13 (Table 1). It should
Fig. 4. Types of post axial type A polydactyly of the foot.
Table 1. SAM classification of foot polydactyly according to syndactyly, axis deviation and extent of metatarsal involvement.14
SAM S-Syndactylism to the Angulation/Deviation M- Metatarsal

Classification Adjacent Toe Extension
0 No <15 degrees No
1 Incomplete, < 1/2 15 degrees, less than Metatarsal head
or equal to 30 shared but shaft (-)
degrees
2 ½ < complete, Greater than 30 Shaft (+) and more
complex syndactyly degrees
From: Seok HH, Park, JU, Kwon ST: New classification of polydactyly of the foot on the basis of syndactylism, axis deviation, and
metatarsal extent of extra digit. Arch Plast Surg 2013; 40(3): 232-237
Fig. 5. Post axial polydactly type B of the foot. Note the extra digit dangling from the fifth toe.
be noted that the majority of these classifications are based bands should be evaluated. The legs should be compared
solely on morphology and provide negligible assistance for length, alignment, and symmetry. Finally, the hindfoot
in guiding surgical planning or predicting treatment out- and midfoot should be evaluated for deformity and flexi-
come. bility.17 It is imperative that standard anterior-posterior and
Limb formation begins by the fourth week of gesta- lateral radiographs be obtained prior to surgical treatment
tion, with primary ossification of all the long bones com- such that the anatomy can be accurately understood and
pleted by 12 weeks of gestation.14 Fetal phalanges and careful preoperative planning can be undertaken.18 Delay-
metatarsals are readily identifiable as early as the 13th ing imaging until the child is closer to one year of age al-
week of gestation by abdominal sonography and 11 weeks lows time for bony ossification and thus allows for a better
by transvaginal sonography.15 , 16 The primary considera- view of the deformity. Treatment ranges from shoe modi-
tion on prenatal discovery of polydactyly is to determine fication to complex surgical reconstruction. General prin-
if its isolated, or if other abnormalities are present. Spe- ciples recommend saving the digit that is most developed,
cific associations that should be ruled out include CNS has the most normal metatarsophalangeal articulation, and
anomalies, skeletal dysplasias, polycystic kidneys and car- that will give the best contour to the foot.19 . The ultimate
diac anomalies, as these are the organs that are abnormal in goal of surgical correction should lead to proper alignment
the major conditions associated with polydactyly. Genetic of toes and comfort in wearing shoes.
counseling with a complete family history of both parents Prompt prenatal identification of polydactyly with the
should be obtained regarding the incidence of polydactyly subsequent appropriate evaluation allows parents and
among other family members. Genetic karyotyping should providers important information for optimal prenatal and
be offered specifically to rule out Trisomy 13. For fetuses postnatal care. The integration of a multidisciplinary team
with isolated polydactyly, no indication is warranted for consisting of Maternal Fetal Medicine Specialists, Ge-
delivery at a tertiary facility. neticists, Pediatric Subspecialists,Cardiologists, Orthope-
Foot polydactyly generates both cosmetic and func- dic Surgeons, Plastic Surgeons, and Occupational Thera-
tional issues for the patient. Functional abnormalities in- pists, allows the child so affected the ability to “ put their
clude walking difficulties, pain, and problems with fitting best foot forward” in life.
into shoes. Examination of the neonate with polydactyly
should begin with location of the anomalous digit or digits.
The manner in which the extra digit attaches is to be taken DECLARATION OF COMPETING
into consideration. Some attachments are thin soft tissue
bridges, while others can involve vessels, cartilage, bone INTEREST
and nail plates. The presence or absence of constriction No conflict of interest to report.
11. Venn-Watson E. Problems in polydactyly of the foot. Orthop

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VanNieuwenhaven CA, et al. Variant type and position predict 14. Ermito S, Dinatale A, Carrara S, Cavaliere A, Imbruglia L, Re-
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Polydactyly of the fetal foot: A case report and

review of the literature

visit. Her past medical history was complicated by a prior

P acterized by supernumerary digits located on either

prenatally diagnosed should have a detailed anatomic sur- DISCUSSION

common associated anomaly. Other accompanying condi-

Fig. 4. Types of post axial type A polydactyly of the foot.

SAM S-Syndactylism to the Angulation/Deviation M- Metatarsal

11. Venn-Watson E. Problems in polydactyly of the foot. Orthop

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